"Ambry Genetics"[submitter] AND "NPRL3"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2533028	NM_001015052.3(MPG):c.506G>C (p.Gly169Ala)	MPG, NPRL3 (G157A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251275	NM_001015052.3(MPG):c.598G>A (p.Ala200Thr)	NPRL3, MPG (A188T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507572	NM_001015052.3(MPG):c.613A>G (p.Lys205Glu)	MPG, NPRL3 (K205E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482627	NM_001015052.3(MPG):c.622G>A (p.Glu208Lys)	MPG, NPRL3 (E208K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553692	NM_001015052.3(MPG):c.641C>G (p.Ser214Cys)	MPG, NPRL3 (S219C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325128	NM_001015052.3(MPG):c.721C>T (p.Arg241Cys)	NPRL3, MPG (R241C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319002	NM_001015052.3(MPG):c.764C>T (p.Ala255Val)	NPRL3, MPG (A243V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400860	NM_001015052.3(MPG):c.766C>T (p.Arg256Trp)	MPG, NPRL3 (R244W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464870	NM_001015052.3(MPG):c.778G>A (p.Gly260Ser)	MPG, NPRL3 (G260S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233601	NM_001015052.3(MPG):c.799C>T (p.Arg267Trp)	MPG, NPRL3 (R255W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400630	NM_001015052.3(MPG):c.806C>T (p.Pro269Leu)	NPRL3, MPG (P257L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375288	NM_001015052.3(MPG):c.812G>A (p.Arg271His)	NPRL3, MPG (R259H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408517	NM_001015052.3(MPG):c.838G>A (p.Val280Ile)	NPRL3, MPG (V268I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1004949	NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe)	HBA-LCR, NPRL3 (L260F +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1439849	NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His)	HBA-LCR, NPRL3 (R243H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 476217	NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro)	HBA-LCR, NPRL3 (S390P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 843565	NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys)	HBA-LCR, NPRL3 (Y230C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1147433	NM_001077350.3(NPRL3):c.1163C>T (p.Thr388Ile)	HBA-LCR, NPRL3 (T209I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2550126	NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)	HBA-LCR, NPRL3 (T288I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 2270861	NM_001077350.3(NPRL3):c.790C>T (p.Leu264Phe)	HBA-LCR, NPRL3 (L186F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 657645	NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro)	HBA-LCR, NPRL3 (L174P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 2398578	NM_001077350.3(NPRL3):c.646G>A (p.Val216Ile)	NPRL3, HBA-LCR (V138I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314114	NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)	HBA-LCR, NPRL3 (K127M +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 2279701	NM_001077350.3(NPRL3):c.510C>G (p.Ile170Met)	HBA-LCR, NPRL3 (I145M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 835740	NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)	HBA-LCR, NPRL3 (R123C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3 +2 more	GConflicting classifications of pathogenicity
Select item 1470206	NM_001077350.3(NPRL3):c.440G>A (p.Arg147His)	HBA-LCR, NPRL3 (R122H +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 574970	NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys)	HBA-LCR, NPRL3 (R147C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1438632	NM_001077350.3(NPRL3):c.428A>G (p.His143Arg)	HBA-LCR, NPRL3 (H118R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2042830	NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)	HBA-LCR, NPRL3 (N12S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 29